R831C (p.Arg831Cys) variant of NPHS1 (Nephrin)
R831C (p.Arg831Cys) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of NPHS1-related disorder; not provided; Finnish congenital nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R831C (p.Arg831Cys) variant details
- p.Arg831Cys
- rs386833915
- ClinGen CA250191
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10527
- Pathogenic/Likely pathogenic
- NPHS1-related disorder; not provided; Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.32
- MetaLR 0.08
- MetaSVM -1.13
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (NPHS1-related disorder; not provided; Finnish congenital nephrot)
- EBI: Pathogenic (in NPHS1)
- UniProt: Pathogenic (in NPHS1)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital… (PMID 11726550)
- Cited in: Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations. (PMID 9915943)